Varaico: Literature-Extracted Genetic Variants

Gene:ATP5MF
Variant:p.V4A

ATP5MF

20 papers

RefSeq Summary

Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subu...

Pfam Domains

WRWaa 11–90UCSCMitochondrial F1F0-ATP synthase, subunit f

Gene Aliases

HGNC Name

ATP synthase membrane subunit f

HGNC Previous Symbol

ATP5J2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004889.5
p.V4A
c.11T>C
Surrounding Variants
1 paper
NM_004889.5
p.G5V
c.14G>T
1 paper
NM_004889.5
p.E6Q
c.16G>C
1 paper
NM_004889.5
p.M1T
c.2T>C
1 paper
NM_004889.5
p.M1V
c.1A>G
1 paper
NM_004889.5
p.A9A
c.27C>A
1 paper
NM_004889.5
p.P12S
c.34C>T
1 paper
NM_004889.5
p.P12R
c.35C>G
1 paper
NM_004889.5
p.W29C
c.87G>T
1 paper
NM_004889.5
p.W29C
c.87G>C
1 paper
NM_004889.5
p.I40insFs
c.118_119insGT
1 paper
NM_004889.5
p.G42G
c.126A>T
1 paper
NM_004889.5
p.A43V
c.128C>T
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